Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus.

Abstract:

:The gene for X-linked nephrogenic diabetes insipidus (NDI), a disorder which, if untreated, causes severe dehydration, mental retardation, and possibly death in affected males, has been mapped recently to the Xq28 band through demonstration of linkage to the DX552 locus and other DNA markers (N. Knoers et al., 1987, Cytogenet. Cell Genet. 46:640; M. Kambouris et al., 1987, Cytogenet. Cell Genet. 46:636). Linkage studies in 11 families with NDI have enabled us to map the NDI gene between closely linked flanking markers in the Xq28 region and to obtain the following gene order: centromere-F9-DXS98-F8/CBD,CBP-DXS52/NDI-DXS134- telomere. These results have implications for presymptomatic and prenatal diagnosis of NDI and should also improve the prospects for identifying the fundamental gene defect underlying this disorder.

journal_name

Genomics

journal_title

Genomics

authors

Knoers N,van der Heyden H,van Oost BA,Monnens L,Willems J,Ropers HH

doi

10.1016/0888-7543(89)90352-2

subject

Has Abstract

pub_date

1989-04-01 00:00:00

pages

434-7

issue

3

eissn

0888-7543

issn

1089-8646

pii

0888-7543(89)90352-2

journal_volume

4

pub_type

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